Variant report

Variant	esv1800945
Chromosome Location	chr8:86030101-86060072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86046340..86050340-chr8:86087322..86091071,3	MCF-7	breast:
2	chr8:86036652..86040201-chr8:86048143..86051872,3	K562	blood:
3	chr8:86041361..86043204-chr8:86048252..86049988,2	MCF-7	breast:
4	chr8:86041361..86043204-chr8:86048252..86049988,2	MCF-7	breast:
5	chr8:86046145..86048472-chr8:86132331..86134349,3	K562	blood:
6	chr8:86033474..86035422-chr8:86039477..86041751,2	K562	blood:
7	chr8:85538381..85538975-chr8:86059742..86060294,2	MCF-7	breast:
8	chr8:86036652..86040201-chr8:86048143..86051872,3	K562	blood:
9	chr8:86037520..86040372-chr8:86075567..86078097,2	K562	blood:
10	chr8:86023655..86027184-chr8:86028294..86031138,3	K562	blood:
11	chr8:86039639..86041706-chr8:86089299..86090855,2	K562	blood:
12	chr8:86033621..86035468-chr8:86039798..86041684,2	K562	blood:
13	chr8:86018609..86020657-chr8:86041368..86044315,2	K562	blood:
14	chr8:86033621..86035468-chr8:86039798..86041684,2	K562	blood:
15	chr8:86024977..86026970-chr8:86032030..86034099,2	MCF-7	breast:
16	chr8:86060046..86062582-chr8:86088601..86090458,2	MCF-7	breast:
17	chr8:86059490..86060356-chr8:86202019..86202533,2	K562	blood:
18	chr8:86058255..86059927-chr8:86097953..86100720,2	MCF-7	breast:
19	chr8:86019640..86022185-chr8:86029422..86031547,2	MCF-7	breast:
20	chr8:86059388..86060135-chr8:86132558..86133520,2	MCF-7	breast:
21	chr8:86033474..86035422-chr8:86039477..86041751,2	K562	blood:
22	chr8:86041424..86043525-chr8:86089868..86091412,2	MCF-7	breast:
23	chr8:86058766..86061369-chr8:86087811..86090336,2	MCF-7	breast:
24	chr8:86019360..86021006-chr8:86035654..86037252,2	MCF-7	breast:
25	chr8:86059254..86060308-chr8:86202052..86203050,5	MCF-7	breast:
26	chr8:86059423..86060332-chr8:86201778..86202999,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260493	chromatin interactions
ENSG00000254208	chromatin interactions
ENSG00000176731	chromatin interactions
ENSG00000133740	chromatin interactions
ENSG00000185015	chromatin interactions
ENSG00000133739	chromatin interactions

Extended variants
information (count: 953 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34103685	chr8:86030101-86030102	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578101747	chr8:86030132-86030133	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77699377	chr8:86030157-86030158	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541988445	chr8:86030176-86030177	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561858160	chr8:86030186-86030187	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527550665	chr8:86030250-86030251	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62525424	chr8:86030271-86030272	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547090141	chr8:86030304-86030305	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563693102	chr8:86030365-86030366	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116960772	chr8:86030460-86030461	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374091699	chr8:86030500-86030501	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549507770	chr8:86030515-86030516	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191121514	chr8:86030603-86030604	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538076839	chr8:86030624-86030625	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548727658	chr8:86030655-86030656	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568668507	chr8:86030703-86030704	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184722507	chr8:86030712-86030713	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554499946	chr8:86030756-86030757	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577347899	chr8:86030766-86030767	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539826290	chr8:86030812-86030813	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149808954	chr8:86030825-86030826	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73688673	chr8:86030861-86030862	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145686713	chr8:86030926-86030927	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561882948	chr8:86030965-86030966	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190568662	chr8:86030972-86030973	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560627485	chr8:86031069-86031070	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182353972	chr8:86031123-86031124	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117590182	chr8:86031283-86031284	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563011988	chr8:86031284-86031285	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13279878	chr8:86031306-86031307	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116858705	chr8:86031310-86031311	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563252743	chr8:86031323-86031324	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528942498	chr8:86031331-86031332	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79152076	chr8:86031362-86031363	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573515749	chr8:86031395-86031396	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117334976	chr8:86031425-86031426	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368864986	chr8:86031484-86031485	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534119455	chr8:86031490-86031491	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548141084	chr8:86031526-86031527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115862432	chr8:86031562-86031563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73261883	chr8:86031621-86031622	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556565148	chr8:86031652-86031653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186919909	chr8:86031716-86031717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542722001	chr8:86031731-86031732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76922684	chr8:86031746-86031747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576472351	chr8:86031750-86031751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535898680	chr8:86031759-86031760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555576582	chr8:86031854-86031855	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567095116	chr8:86031889-86031890	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578035618	chr8:86031929-86031930	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86020000-86057400	Weak transcription	Small Intestine	intestine
2	chr8:86020200-86032600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:86020200-86042200	Weak transcription	Left Ventricle	heart
4	chr8:86020400-86032400	Weak transcription	Fetal Thymus	thymus
5	chr8:86020400-86034400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:86020400-86043800	Weak transcription	NH-A	brain
7	chr8:86020400-86044400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:86020400-86048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:86020400-86048400	Weak transcription	Fetal Stomach	stomach
10	chr8:86020400-86049000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:86020400-86054800	Weak transcription	Lung	lung
12	chr8:86020400-86055400	Weak transcription	Fetal Kidney	kidney
13	chr8:86020400-86055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:86020400-86056400	Weak transcription	Gastric	stomach
15	chr8:86020400-86057400	Weak transcription	Aorta	Aorta
16	chr8:86020400-86062600	Weak transcription	Pancreas	Pancrea
17	chr8:86020600-86031800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:86020600-86031800	Weak transcription	HMEC	breast
19	chr8:86020600-86032000	Weak transcription	NHEK	skin
20	chr8:86020600-86032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:86020600-86034400	Weak transcription	Liver	Liver
22	chr8:86020600-86039200	Weak transcription	Adipose Nuclei	Adipose
23	chr8:86020600-86041600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:86020600-86044200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:86020600-86045800	Weak transcription	Thymus	Thymus
26	chr8:86020600-86048800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:86020600-86049000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:86020600-86049200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:86020600-86052400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:86020600-86054600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:86020600-86058800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:86020800-86039000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:86020800-86050600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:86021000-86032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:86021000-86034400	Weak transcription	Fetal Lung	lung
36	chr8:86021000-86039800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:86021000-86039800	Weak transcription	NHDF-Ad	bronchial
38	chr8:86021000-86046000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:86021000-86049800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:86021200-86034800	Weak transcription	GM12878-XiMat	blood
41	chr8:86021200-86035000	Weak transcription	Fetal Intestine Small	intestine
42	chr8:86021200-86039000	Weak transcription	Fetal Brain Female	brain
43	chr8:86021200-86053600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:86021200-86058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:86021200-86059600	Weak transcription	Fetal Brain Male	brain
46	chr8:86021400-86041800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:86021400-86058400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:86021600-86039600	Weak transcription	K562	blood
49	chr8:86021600-86049800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:86021800-86045200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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